Incidental Mutation 'R5129:Cdh13'
ID 394908
Institutional Source Beutler Lab
Gene Symbol Cdh13
Ensembl Gene ENSMUSG00000031841
Gene Name cadherin 13
Synonyms T-cadherin, 4932416G01Rik, Tcad
MMRRC Submission 042717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5129 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 119010472-120051660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119821954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 271 (D271G)
Ref Sequence ENSEMBL: ENSMUSP00000113527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117160]
AlphaFold Q9WTR5
PDB Structure Crystal Structure of mouse T-cadherin EC1 EC2 [X-RAY DIFFRACTION]
Crystal structure of mouse T-cadherin EC1 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000117160
AA Change: D271G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: D271G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Cadherin_pro 26 112 1.04e-17 SMART
CA 160 243 1.49e-18 SMART
CA 267 361 1.84e-23 SMART
CA 383 476 8.75e-16 SMART
CA 499 583 2.36e-21 SMART
CA 604 687 5.93e-2 SMART
low complexity region 695 714 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148836
Meta Mutation Damage Score 0.9077 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. This gene is highly expressed in the vasculature including endothelial cells, smooth muscle cells and pericytes, where the encoded protein binds to adiponectin and has been implicated in the modulation of angiogenesis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,260,786 (GRCm39) noncoding transcript Het
Abcf1 C T 17: 36,271,687 (GRCm39) probably benign Het
Adamts14 T A 10: 61,085,397 (GRCm39) D209V probably benign Het
Aldh3b1 A G 19: 3,965,336 (GRCm39) F392L probably benign Het
Atp1a2 A T 1: 172,103,522 (GRCm39) D999E probably benign Het
Capn7 T C 14: 31,066,468 (GRCm39) V94A probably damaging Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col6a4 T C 9: 105,890,576 (GRCm39) E1906G probably damaging Het
Daw1 T C 1: 83,183,624 (GRCm39) Y225H probably damaging Het
Dvl3 T A 16: 20,336,090 (GRCm39) M49K possibly damaging Het
Eef1b2 T G 1: 63,218,739 (GRCm39) S175A probably damaging Het
Epb41l1 A T 2: 156,351,201 (GRCm39) Y425F possibly damaging Het
Fam43b A T 4: 138,122,783 (GRCm39) L179* probably null Het
Fbxw28 A G 9: 109,155,671 (GRCm39) L314P probably damaging Het
Fstl4 C A 11: 53,077,266 (GRCm39) D674E probably damaging Het
G3bp1 T C 11: 55,379,942 (GRCm39) V92A possibly damaging Het
Gm3604 A T 13: 62,517,588 (GRCm39) Y257N probably benign Het
Gm5900 A G 7: 104,599,223 (GRCm39) noncoding transcript Het
Hectd4 G A 5: 121,481,573 (GRCm39) V3041M possibly damaging Het
Hivep2 A G 10: 14,006,608 (GRCm39) K1069E probably damaging Het
Hlf T C 11: 90,281,078 (GRCm39) D38G probably benign Het
Hsd3b7 C A 7: 127,400,306 (GRCm39) C18* probably null Het
Kdm5a T C 6: 120,381,983 (GRCm39) C676R probably damaging Het
Klhdc7b A G 15: 89,272,751 (GRCm39) Y1211C probably damaging Het
Krt78 C A 15: 101,856,015 (GRCm39) V599L possibly damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Nbas T C 12: 13,440,961 (GRCm39) L1097P probably damaging Het
Nf2 A C 11: 4,766,145 (GRCm39) D87E probably benign Het
Or10d4c T A 9: 39,558,790 (GRCm39) I256N probably benign Het
Or14j2 T C 17: 37,886,071 (GRCm39) Y81C probably damaging Het
Ppil3 A G 1: 58,479,992 (GRCm39) probably benign Het
Prrc2a T C 17: 35,379,154 (GRCm39) E276G unknown Het
Semp2l1 C A 1: 32,584,560 (GRCm39) R450M probably damaging Het
Semp2l1 T A 1: 32,584,561 (GRCm39) R450W probably damaging Het
Spata16 A G 3: 26,721,713 (GRCm39) E78G probably damaging Het
Tlr3 A T 8: 45,856,018 (GRCm39) I54K probably damaging Het
Tmem72 A G 6: 116,678,974 (GRCm39) L34P probably damaging Het
Triobp A G 15: 78,845,296 (GRCm39) R213G probably benign Het
Tyrp1 T A 4: 80,764,844 (GRCm39) V7D probably damaging Het
Uhrf2 A G 19: 30,052,621 (GRCm39) I372V probably benign Het
Uty T C Y: 1,158,592 (GRCm39) T484A probably benign Het
Vcan T C 13: 89,838,359 (GRCm39) D2395G probably damaging Het
Vmn1r225 T A 17: 20,723,378 (GRCm39) I273N probably damaging Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp457 T C 13: 67,441,420 (GRCm39) E385G probably benign Het
Zfp74 C T 7: 29,631,880 (GRCm39) M121I probably benign Het
Zfp866 A T 8: 70,220,359 (GRCm39) probably null Het
Zfp874a A T 13: 67,591,100 (GRCm39) C195S probably damaging Het
Other mutations in Cdh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Cdh13 APN 8 120,039,245 (GRCm39) missense possibly damaging 0.87
IGL00659:Cdh13 APN 8 120,039,406 (GRCm39) missense probably damaging 1.00
IGL01662:Cdh13 APN 8 119,401,916 (GRCm39) missense probably damaging 0.99
IGL01719:Cdh13 APN 8 119,401,927 (GRCm39) missense probably benign 0.01
IGL02148:Cdh13 APN 8 119,925,697 (GRCm39) missense probably damaging 1.00
IGL02157:Cdh13 APN 8 119,232,410 (GRCm39) missense possibly damaging 0.68
IGL02188:Cdh13 APN 8 119,578,500 (GRCm39) missense probably benign 0.08
IGL02490:Cdh13 APN 8 119,822,062 (GRCm39) missense probably damaging 1.00
IGL02851:Cdh13 APN 8 119,401,897 (GRCm39) missense probably benign 0.32
IGL02958:Cdh13 APN 8 120,039,460 (GRCm39) missense possibly damaging 0.90
IGL03085:Cdh13 APN 8 120,015,463 (GRCm39) missense probably damaging 1.00
IGL03230:Cdh13 APN 8 119,969,056 (GRCm39) missense probably damaging 1.00
IGL03280:Cdh13 APN 8 120,040,873 (GRCm39) missense probably damaging 1.00
K3955:Cdh13 UTSW 8 119,401,843 (GRCm39) missense probably damaging 0.99
P0038:Cdh13 UTSW 8 119,401,843 (GRCm39) missense probably damaging 0.99
R0398:Cdh13 UTSW 8 120,040,786 (GRCm39) missense probably damaging 1.00
R2156:Cdh13 UTSW 8 119,963,703 (GRCm39) missense probably damaging 1.00
R3415:Cdh13 UTSW 8 119,401,946 (GRCm39) missense probably benign 0.35
R4243:Cdh13 UTSW 8 119,968,996 (GRCm39) missense probably damaging 1.00
R4839:Cdh13 UTSW 8 119,578,587 (GRCm39) nonsense probably null
R4851:Cdh13 UTSW 8 119,484,129 (GRCm39) missense possibly damaging 0.75
R5453:Cdh13 UTSW 8 119,925,706 (GRCm39) missense probably damaging 1.00
R5607:Cdh13 UTSW 8 119,484,213 (GRCm39) missense probably benign
R5608:Cdh13 UTSW 8 119,484,213 (GRCm39) missense probably benign
R5610:Cdh13 UTSW 8 119,578,462 (GRCm39) missense possibly damaging 0.95
R6035:Cdh13 UTSW 8 119,232,437 (GRCm39) missense probably benign 0.03
R6035:Cdh13 UTSW 8 119,232,437 (GRCm39) missense probably benign 0.03
R6556:Cdh13 UTSW 8 119,694,926 (GRCm39) missense probably damaging 0.99
R7124:Cdh13 UTSW 8 119,694,912 (GRCm39) missense probably damaging 1.00
R7349:Cdh13 UTSW 8 119,969,097 (GRCm39) missense probably damaging 0.97
R7418:Cdh13 UTSW 8 120,039,264 (GRCm39) missense probably damaging 1.00
R7679:Cdh13 UTSW 8 119,963,658 (GRCm39) missense probably benign 0.29
R7807:Cdh13 UTSW 8 119,010,594 (GRCm39) start codon destroyed probably null 0.77
R8777:Cdh13 UTSW 8 119,963,706 (GRCm39) critical splice donor site probably null
R8777-TAIL:Cdh13 UTSW 8 119,963,706 (GRCm39) critical splice donor site probably null
R9175:Cdh13 UTSW 8 119,968,968 (GRCm39) missense probably damaging 1.00
R9481:Cdh13 UTSW 8 119,963,676 (GRCm39) missense
X0025:Cdh13 UTSW 8 119,232,418 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TCGGGTCCTTTAATGTGATAGAGC -3'
(R):5'- GCTGTGCTCCATTCTCACAAAG -3'

Sequencing Primer
(F):5'- TCCTTTAATGTGATAGAGCAGGCAG -3'
(R):5'- GAAGAAAACAGAATCCTTTCCGCTC -3'
Posted On 2016-06-21